Leptin receptor isoform 219.1:: an example of protein evolution by LINE-1-mediated human-svecific retrotransposition of a coding SVA element
Leptin receptor isoform 219.1:: an example of protein evolution by LINE-1-mediated human-svecific retrotransposition of a coding SVA element
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DOI：
10.1093/molbev/msh056
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发表时间：
2004-04-01
影响因子：
10.7
通讯作者：
Löwer, R
中科院分区：
文献类型：
--
作者：
Damert, A;Löwer, J;Löwer, R
在系统发育上，重复序列的新插入可能通过改变先前存在的蛋白质的功能来促进基因组进化。一个例子是SVA序列，它形成了人瘦素受体亚型219.1的C末端编码外显子。在这里，我们报告了在人类和黑猩猩分化后，SVA插入到LEPR基因座上。SVA元件被插入到所有被测试的猴子和类人猿中存在的Hal-1/line元件中。结构特征表明，由反式作用的L1蛋白机制介导的整合事件。因此，我们的发现为逆转座事件是基因组进化的驱动力以及特定逆转录元件的存在或不存在是区分人类和黑猩猩的一个区别特征的假设提供了证据。
Phylogenetically new insertions of repetitive sequences may contribute to genome evolution by altering the function of preexisting proteins. One example is the SVA sequence, which forms the C-terminal coding exon of the human leptin receptor isoform 219.1. Here, we report that the SVA insertion into the LEPR locus has occurred after divergence of humans and chimpanzees. The SVA element was inserted into a Hal-1/LINE element present in all monkeys and apes tested. Structural features point toward an integration event that was mediated by the L1 protein machinery acting in trans. Thus, our findings add evidence to the hypothesis that retrotransposition events are a driving force in genomic evolution and that the presence or absence of specific retroelements are one distinguishing feature that separates humans from chimpanzees.